Canonical Allele Identifier: CA2319221642
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs2040884700
gnomAD v4: 19-4094390-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4094390T>C , CM000681.2:g.4094390T>C GRCh38
NC_000019.9:g.4094388T>C , CM000681.1:g.4094388T>C GRCh37
NC_000019.8:g.4045388T>C NCBI36
NG_007996.1:g.34739A>G , LRG_750:g.34739A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1531+63A>G
ENST00000688002.1:n.3243+63A>G
ENST00000688751.1:n.228+63A>G
ENST00000689792.1:n.996+63A>G
ENST00000262948.10:c.1092+63A>G MANE Select ENSP00000262948.4:n.1092+63A>G
ENST00000262948.9:c.1092+63A>G ENSP00000262948.3:n.1092+63A>G
ENST00000394867.8:c.801+63A>G ENSP00000378336.1:n.801+63A>G
ENST00000597263.5:n.277+63A>G
ENST00000599021.1:c.202+63A>G
ENST00000600584.5:n.2541+63A>G
ENST00000601786.5:n.1393+63A>G
NM_030662.3:c.1092+63A>G , LRG_750t1:c.1092+63A>G NP_109587.1:n.1092+63A>G
XM_006722799.2:c.813+63A>G XP_006722862.1:n.813+63A>G
XM_011528133.1:c.522+63A>G XP_011526435.1:n.522+63A>G
NM_030662.4:c.1092+63A>G MANE Select NP_109587.1:n.1092+63A>G